Mancuso Michelangelo, Filosto Massimiliano, Oh Shin J, DiMauro Salvatore
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Arch Neurol. 2004 Nov;61(11):1777-9. doi: 10.1001/archneur.61.11.1777.
Mutations in polymerase gamma cause progressive external ophthalmoplegia and a variety of associated symptoms and signs, including neuropathy, ataxia, hypogonadism, hearing loss, muscle weakness, and psychiatric problems. Extrapyramidal signs have been rarely described.
To describe a family with a novel polymerase gamma mutation and autosomal dominant transmission of progressive external ophthalmoplegia, neuropathy, hypogonadism, and parkinsonism.
Case report.
The proband, a 49-year-old woman with incipient parkinsonism, and her 59-year-old brother with overt parkinsonian features.
Mutation in the proband by sequencing the polymerase gamma gene and in affected relatives by restriction fragment length polymorphism analysis.
We found multiple mitochondrial DNA deletions in the proband's muscle and a novel missense mutation in the polymerase gamma gene (A2492G) in the proband and in her affected siblings.
Parkinsonism was a prominent clinical feature in this family with autosomal dominant ophthalmoplegia, multiple mitochondrial DNA deletions, and a novel mutation in the polymerase gamma gene.
聚合酶γ基因突变可导致进行性眼外肌麻痹及多种相关症状和体征，包括神经病变、共济失调、性腺功能减退、听力丧失、肌肉无力和精神问题。锥体外系体征鲜有报道。
描述一个具有新型聚合酶γ基因突变且进行性眼外肌麻痹、神经病变、性腺功能减退和帕金森症呈常染色体显性遗传的家系。
病例报告。
先证者，一名49岁初发帕金森症的女性，以及她患有明显帕金森症特征的59岁哥哥。
通过对聚合酶γ基因测序检测先证者的突变情况，并通过限制性片段长度多态性分析检测患病亲属的突变情况。
我们在先证者肌肉中发现多个线粒体DNA缺失，且在先证者及其患病同胞中发现聚合酶γ基因中的一个新型错义突变（A2492G）。
在这个具有常染色体显性眼外肌麻痹、多个线粒体DNA缺失以及聚合酶γ基因新型突变的家系中，帕金森症是一个突出的临床特征。
